Details of Disease

General Information of Disease (ID: DISAVFKY)

• Disease Name: SATB2 associated disorder
• Synonyms: SAS; SATB2 associated disorder; SATB2-associated syndrome
• Definition: A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.
• Disease Hierarchy:
  DISH7SDF: Syndromic intellectual disability
  DISD715V: Hereditary neurological disease
  DISAVFKY: SATB2 associated disorder

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SATB2	OT2W80XC	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.